Canonical Allele Identifier: CA1528880777
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1737476509
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716724dup , CM000667.2:g.14716724dup GRCh38
NC_000005.9:g.14716833dup , CM000667.1:g.14716833dup GRCh37
NC_000005.8:g.14769833dup NCBI36
NG_008273.1:g.160055dup
NG_008273.2:g.160062dup
NG_051625.1:g.60931dup

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1123dup MANE Select ENSP00000284268.6:p.Ser375PhefsTer?
ENST00000284268.6:c.1123dup ENSP00000284268.6:p.Ser375PhefsTer?
ENST00000502585.1:n.365dup
NM_054027.4:c.1123dup NP_473368.1:p.Ser375PhefsTer?
NM_054027.5:c.1123dup NP_473368.1:p.Ser375PhefsTer?
XM_017009644.2:c.1039dup XP_016865133.1:p.Ser347PhefsTer?
NM_054027.6:c.1123dup MANE Select NP_473368.1:p.Ser375PhefsTer?
Search 100 bp 5'
Search 100 bp 3'